title: The prevalence of primary hereditary hemochromatosis in central Anatolia.
abstract: OBJECTIVE
  Hereditary hemochromatosis is an autosomal recessive disorder associated with the HFE genes. Early identification and diagnosis is important as end stage organ damage may occur if treatment is delayed.. This study aimed to identify the prevalence of hereditary hemochromatosis in Kayseri and surroundings known as Central Anatolia.
  
  
  METHODS
  2304 participants (1220 males, 1084 females) who were older then the age of 17 were included in the study conducted between December 2005 and December 2006 in Kayseri, Turkey. Transferin saturation was measured from overnight fasting blood samples. Serum iron, total iron binding capacity, and transferin saturation were measured. Serum ferritin levels and hereditary hemochromatosis genetic analysis were also performed after an overnight fasting blood samples from participants whose transferin saturation results were more than 50% in man and more than 45% in women.
  
  
  RESULTS
  The homozygote C282Y mutation and heterozygote C282Y mutation prevalences were found as 0.08% (1/1220) and 0.08% (1/1220) in male participants, respectively. The heterozygote H63D mutation prevalence was found in 0.09% (1/1084) of female participants. Calculated prevalences in general population are as follows; The homozygote C282Y mutation prevalence is 0.043% (1/2304), the heterozygote C282Y mutation prevalence is 0.043% (1/2304) and the heterozygote H63D mutation prevalence is 0.043% (1/2304).
  
  
  CONCLUSIONS
  The prevalence of hereditary hemochromatosis in Central Anatolia is 0.043% (1/2304). Because of the relatively low frequency, population screening studies are not cost-effective.
authors.affiliation: Departments of Medical Oncology, Erciyes University School of Medicine, Kayseri, Turkey. halitraca@hotmail.com
authors.forename: Halit
authors.initials: H
authors.lastname: Karaca
authors.forename: Kadri
authors.initials: K
authors.lastname: Güven
authors.forename: Müge
authors.initials: M
authors.lastname: Önal
authors.forename: Şebnem
authors.initials: Ş
authors.lastname: Gürsoy
authors.forename: Mevlüt
authors.initials: M
authors.lastname: Başkol
authors.forename: Yusuf
authors.initials: Y
authors.lastname: Özkul
mesh_terms: D000293:Adolescent; D000328:Adult; D017677:Age Distribution; D000368:Aged; D000369:Aged, 80 and over; D005260:Female; D006432:Hemochromatosis / Q000453:epidemiology* / Q000235:genetics*; D000071020:Hemochromatosis Protein; D006579:Heterozygote; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D017354:Point Mutation / Q000235:genetics*; D015995:Prevalence; D017678:Sex Distribution; D014421:Turkey / Q000453:epidemiology; D055815:Young Adult
chemical_list: C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins